Phenotypic and Genotypic Spectrum of Children with Autosomal Recessive Hyperimmunoglobulin E Syndrome Caused by DOCK8 Mutation: A Systematic Review of Case Reports

Phenotypic and Genotypic Spectrum of Children with Autosomal Recessive Hyperimmunoglobulin E Syndrome Caused by DOCK8 Mutation: A Systematic Review of Case Reports

Background: Hyperimmunoglobulin E (IgE) syndrome (HIES) is a rare primary immunodeficiency disease, with features of recurrent eczema-like rashes, skin and lung infections, and elevated serum IgE. Common genetic mutations involve STAT3 and DOCK8 in autosomal dominant and recessive types, respectivel...

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Bibliographic Details
Main Authors: Ananyan Sampath, Hemant Yadav, Sanjuna Juluri, Girish Chandra Bhat, Yogendra Singh Yadav
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2024-08-01
Series:Indian Pediatrics Case Reports
Subjects:
combined immunodeficiency
dock8 deficiency
hyperimmunoglobulin e syndrome
job syndrome
natural outcome
Online Access:https://journals.lww.com/10.4103/ipcares.ipcares_156_24
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